MT-ATP8

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Name:	mitochondrially encoded ATP synthase membrane subunit 8
Symbol:	MT-ATP8
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	A6L ATP8 URFA6L mitochondrially encoded ATP synthase membrane subunit A6L
XREF(s):	Orphanet Genatlas HGNC OMIM Reactome SwissProt Ensembl
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Leigh / NARP Syndrome

Related Diseases

• Isolated ATP synthase deficiency
• Kearns-Sayre syndrome
• Periodic paralysis with later-onset distal motor neuropathy

Related Gene Panels

• Leigh syndrome (mtDNA / 37 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ND1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4L	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND5	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP8	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CYB	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TF	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TQ	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TW	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TH	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TP	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TK	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TT	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TV	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TE	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TI	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TM	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TN	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TA	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TC	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TG	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TR	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TY	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TD	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations

• Leigh/Narp syndrome (3 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ATP6
  MT-ATP8
  MT-ND5